TY - JOUR
T1 - Duplication of 7p
T2 - Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm
AU - Reish, Orit
AU - Berry, Susan A.
AU - Dewald, Gordon
AU - King, Richard A.
PY - 1996/1/2
Y1 - 1996/1/2
N2 - We report on a patient with duplication of 7p15→pter and review the literature. Patients with partial duplication of the distal 7p, including only the distal segment 7p15→pter, have a syndrome comparable to that of patients with a larger or complete duplication of 7p. This suggests that the critical region for the dup(7p) phenotype is restricted to 7p15→pter. The complete clinical phenotype of dup(7)(p15→pter) includes mental retardation, skull anomalies, large anterior fontanel, cardiovascular defects, joint dislocation and contraction, and gastrointestinal and genital defects. Recognition of the clinical spectrum in patients with a smaller duplication of 7p, and the assignment of this critical region, should prove valuable for accurate counseling, prediction of outcome, and further gene mapping.
AB - We report on a patient with duplication of 7p15→pter and review the literature. Patients with partial duplication of the distal 7p, including only the distal segment 7p15→pter, have a syndrome comparable to that of patients with a larger or complete duplication of 7p. This suggests that the critical region for the dup(7p) phenotype is restricted to 7p15→pter. The complete clinical phenotype of dup(7)(p15→pter) includes mental retardation, skull anomalies, large anterior fontanel, cardiovascular defects, joint dislocation and contraction, and gastrointestinal and genital defects. Recognition of the clinical spectrum in patients with a smaller duplication of 7p, and the assignment of this critical region, should prove valuable for accurate counseling, prediction of outcome, and further gene mapping.
KW - critical region
KW - deletion 20q
KW - duplication 7p
KW - phenotype
UR - http://www.scopus.com/inward/record.url?scp=0030044465&partnerID=8YFLogxK
U2 - 10.1002/(sici)1096-8628(19960102)61:1<21::aid-ajmg4>3.0.co;2-%23
DO - 10.1002/(sici)1096-8628(19960102)61:1<21::aid-ajmg4>3.0.co;2-%23
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C2 - 8741912
AN - SCOPUS:0030044465
SN - 0148-7299
VL - 61
SP - 21
EP - 25
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -